Expanding the phenotype of PIGP deficiency to multiple congenital anomalies-hypotonia-seizures syndrome.
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DOI: 10.1111/cge.14340
Abstract: Glycosylphosphatidylinositol-anchored proteins are involved in multiple physiological processes and the initial stage of their biosynthesis is mediated by PIGA, PIGC, PIGH, PIGP, PIGQ, PIGY, and DMP2 genes, which have been linked to a wide spectrum… read more here.
Keywords: anomalies hypotonia; pigp gene; multiple congenital; congenital anomalies ... See more keywords